Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000274 | HP:0000274 | Small face | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 96 | | |
HP:0000274 | HP:0000274 | Small face | 0 | ACTA1 CL E G H | 58 | 129 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | | | | 96 | | |
HP:0000274 | HP:0000274 | Small face | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:171436 | Typical nemaline myopathy | | | | 96 | | |
HP:0000274 | HP:0000274 | Small face | 0 | ANTXR2 CL E G H | 118429 | 21732 | OMIM:228600 | Hyaline fibromatosis syndrome | | | | 49 | | |
HP:0000274 | HP:0000274 | Small face | 0 | AP4E1 CL E G H | 23431 | 573 | OMIM:613744 | Spastic paraplegia 51, autosomal recessive | | | | 48 | | |
HP:0000274 | HP:0000274 | Small face | 0 | APC2 CL E G H | 10297 | 24036 | ORPHA:821 | Sotos syndrome | | | | 1 | | |
HP:0000274 | HP:0000274 | Small face | 0 | ATP7A CL E G H | 538 | 869 | OMIM:304150 | Occipital horn syndrome | | | | 192 | | |
HP:0000274 | HP:0000274 | Small face | 0 | ATR CL E G H | 545 | 882 | ORPHA:808 | Seckel syndrome | | | | 168 | | |
HP:0000274 | HP:0000274 | Small face | 0 | ATRIP CL E G H | 84126 | 33499 | ORPHA:808 | Seckel syndrome | | | | 1 | | |
HP:0000274 | HP:0000274 | Small face | 0 | AXIN2 CL E G H | 8313 | 904 | ORPHA:99798 | Oligodontia | | | | 435 | | |
HP:0000274 | HP:0000274 | Small face | 0 | B3GAT3 CL E G H | 26229 | 923 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | . | | | 5 | | |
HP:0000274 | HP:0000274 | Small face | 0 | B4GALT7 CL E G H | 11285 | 930 | OMIM:130070 | Ehlers-Danlos syndrome, spondylodysplastic type, 1 | . | | | 29 | | |
HP:0000274 | HP:0000274 | Small face | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000274 | HP:0000274 | Small face | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000274 | HP:0000274 | Small face | 0 | BCOR CL E G H | 54880 | 20893 | OMIM:300166 | Microphthalmia, syndromic 2 | | | | 101 | | |
HP:0000274 | HP:0000274 | Small face | 0 | BCOR CL E G H | 54880 | 20893 | ORPHA:2712 | Oculofaciocardiodental syndrome | | | | 101 | | |
HP:0000274 | HP:0000274 | Small face | 0 | BLM CL E G H | 641 | 1058 | OMIM:210900 | Bloom syndrome | | | | 314 | | |
HP:0000274 | HP:0000274 | Small face | 0 | BLM CL E G H | 641 | 1058 | ORPHA:125 | Bloom syndrome | | | | 314 | | |
HP:0000274 | HP:0000274 | Small face | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000274 | HP:0000274 | Small face | 0 | CENPE CL E G H | 1062 | 1856 | ORPHA:808 | Seckel syndrome | | | | 20 | | |
HP:0000274 | HP:0000274 | Small face | 0 | CENPJ CL E G H | 55835 | 17272 | ORPHA:808 | Seckel syndrome | | | | 161 | | |
HP:0000274 | HP:0000274 | Small face | 0 | CENPT CL E G H | 80152 | 25787 | OMIM:618702 | SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA | | | | | | |
HP:0000274 | HP:0000274 | Small face | 0 | CEP152 CL E G H | 22995 | 29298 | ORPHA:808 | Seckel syndrome | | | | 146 | | |
HP:0000274 | HP:0000274 | Small face | 0 | CFL2 CL E G H | 1073 | 1875 | ORPHA:171436 | Typical nemaline myopathy | | | | 35 | | |
HP:0000274 | HP:0000274 | Small face | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:138 | CHARGE syndrome | | | | 515 | | |
HP:0000274 | HP:0000274 | Small face | 0 | CHRNB1 CL E G H | 1140 | 1961 | OMIM:616313 | Myasthenic syndrome, congenital, 2A, slow-channel | | | | 53 | | |
HP:0000274 | HP:0000274 | Small face | 0 | CHST3 CL E G H | 9469 | 1971 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | . | | | 165 | | |
HP:0000274 | HP:0000274 | Small face | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000274 | HP:0000274 | Small face | 0 | COL18A1 CL E G H | 80781 | 2195 | OMIM:267750 | Knobloch syndrome 1 | | | | 177 | | |
HP:0000274 | HP:0000274 | Small face | 0 | DDX11 CL E G H | 1663 | 2736 | OMIM:613398 | Warsaw breakage syndrome | . | | | 13 | | |
HP:0000274 | HP:0000274 | Small face | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000274 | HP:0000274 | Small face | 0 | DSTYK CL E G H | 25778 | 29043 | OMIM:270750 | Spastic paraplegia 23 | | | | 13 | | |
HP:0000274 | HP:0000274 | Small face | 0 | EDA CL E G H | 1896 | 3157 | ORPHA:99798 | Oligodontia | | | | 115 | | |
HP:0000274 | HP:0000274 | Small face | 0 | EDARADD CL E G H | 128178 | 14341 | ORPHA:99798 | Oligodontia | | | | 56 | | |
HP:0000274 | HP:0000274 | Small face | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000274 | HP:0000274 | Small face | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | | | | 172 | | |
HP:0000274 | HP:0000274 | Small face | 0 | ERCC4 CL E G H | 2072 | 3436 | OMIM:610965 | XFE progeroid syndrome | | | | 158 | | |
HP:0000274 | HP:0000274 | Small face | 0 | EYA1 CL E G H | 2138 | 3519 | OMIM:113650 | Branchiootorenal syndrome 1 | | | | 135 | | |
HP:0000274 | HP:0000274 | Small face | 0 | EYA1 CL E G H | 2138 | 3519 | OMIM:166780 | Otofaciocervical syndrome | | | | 135 | | |
HP:0000274 | HP:0000274 | Small face | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:154700 | Marfan syndrome | | | | 1361 | | |
HP:0000274 | HP:0000274 | Small face | 0 | FBXL4 CL E G H | 26235 | 13601 | OMIM:615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | | | | 384 | | |
HP:0000274 | HP:0000274 | Small face | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:99798 | Oligodontia | | | | 172 | | |
HP:0000274 | HP:0000274 | Small face | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:187600 | Thanatophoric dysplasia, type I | . | | | 145 | | |
HP:0000274 | HP:0000274 | Small face | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:187601 | Thanatophoric dysplasia, type II | . | | | 145 | | |
HP:0000274 | HP:0000274 | Small face | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000274 | HP:0000274 | Small face | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:309350 | Melnick-Needles syndrome | . | | | 493 | | |
HP:0000274 | HP:0000274 | Small face | 0 | FMR1 CL E G H | 2332 | 3775 | ORPHA:908 | Fragile X syndrome | | | | 30 | | |
HP:0000274 | HP:0000274 | Small face | 0 | GHR CL E G H | 2690 | 4263 | OMIM:262500 | Laron syndrome | . | | | 98 | | |
HP:0000274 | HP:0000274 | Small face | 0 | GRHL3 CL E G H | 57822 | 25839 | ORPHA:99772 | Cleft velum | | | | 12 | | |
HP:0000274 | HP:0000274 | Small face | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000274 | HP:0000274 | Small face | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000274 | HP:0000274 | Small face | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000274 | HP:0000274 | Small face | 0 | HYOU1 CL E G H | 10525 | 16931 | OMIM:233600 | Immunodeficiency 59 and hypoglycemia | | | | | | |
HP:0000274 | HP:0000274 | Small face | 0 | INSR CL E G H | 3643 | 6091 | OMIM:246200 | Donohue syndrome | . | | | 229 | | |
HP:0000274 | HP:0000274 | Small face | 0 | IRF6 CL E G H | 3664 | 6121 | ORPHA:99798 | Oligodontia | | | | 99 | | |
HP:0000274 | HP:0000274 | Small face | 0 | KBTBD13 CL E G H | 390594 | 37227 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 80 | | |
HP:0000274 | HP:0000274 | Small face | 0 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 13 | | |
HP:0000274 | HP:0000274 | Small face | 0 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171436 | Typical nemaline myopathy | | | | 13 | | |
HP:0000274 | HP:0000274 | Small face | 0 | LIG4 CL E G H | 3981 | 6601 | ORPHA:235 | Dubowitz syndrome | | | | 88 | | |
HP:0000274 | HP:0000274 | Small face | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000274 | HP:0000274 | Small face | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:79474 | Atypical Werner syndrome | | | | 645 | | |
HP:0000274 | HP:0000274 | Small face | 0 | LMOD3 CL E G H | 56203 | 6649 | ORPHA:171436 | Typical nemaline myopathy | | | | 11 | | |
HP:0000274 | HP:0000274 | Small face | 0 | LRP6 CL E G H | 4040 | 6698 | ORPHA:99798 | Oligodontia | | | | 26 | | |
HP:0000274 | HP:0000274 | Small face | 0 | MAP2K2 CL E G H | 5605 | 6842 | OMIM:615280 | Cardiofaciocutaneous syndrome 4 | | | | 178 | | |
HP:0000274 | HP:0000274 | Small face | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:309520 | Lujan-Fryns syndrome | | | | 228 | | |
HP:0000274 | HP:0000274 | Small face | 0 | MED12 CL E G H | 9968 | 11957 | ORPHA:776 | Lujan-Fryns syndrome | | | | 228 | | |
HP:0000274 | HP:0000274 | Small face | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000274 | HP:0000274 | Small face | 0 | MICU1 CL E G H | 10367 | 1530 | OMIM:615673 | Myopathy with extrapyramidal signs | | | | 14 | | |
HP:0000274 | HP:0000274 | Small face | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000274 | HP:0000274 | Small face | 0 | MSX1 CL E G H | 4487 | 7391 | ORPHA:99798 | Oligodontia | | | | 12 | | |
HP:0000274 | HP:0000274 | Small face | 0 | MTM1 CL E G H | 4534 | 7448 | OMIM:310400 | Myopathy, centronuclear, X-linked | | | | 185 | | |
HP:0000274 | HP:0000274 | Small face | 0 | MYH3 CL E G H | 4621 | 7573 | ORPHA:1147 | Sheldon-Hall syndrome | | | | 166 | | |
HP:0000274 | HP:0000274 | Small face | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | | | | 1269 | | |
HP:0000274 | HP:0000274 | Small face | 0 | MYPN CL E G H | 84665 | 23246 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 217 | | |
HP:0000274 | HP:0000274 | Small face | 0 | NALCN CL E G H | 259232 | 19082 | ORPHA:1147 | Sheldon-Hall syndrome | | | | 48 | | |
HP:0000274 | HP:0000274 | Small face | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | | | | 13 | | |
HP:0000274 | HP:0000274 | Small face | 0 | NEB CL E G H | 4703 | 7720 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 745 | | |
HP:0000274 | HP:0000274 | Small face | 0 | NEB CL E G H | 4703 | 7720 | ORPHA:171436 | Typical nemaline myopathy | | | | 745 | | |
HP:0000274 | HP:0000274 | Small face | 0 | NFIX CL E G H | 4784 | 7788 | ORPHA:420179 | Malan overgrowth syndrome | | | | 40 | | |
HP:0000274 | HP:0000274 | Small face | 0 | NFIX CL E G H | 4784 | 7788 | OMIM:614753 | Sotos syndrome 2 | | | | 40 | | |
HP:0000274 | HP:0000274 | Small face | 0 | NGLY1 CL E G H | 55768 | 17646 | OMIM:615273 | Congenital disorder of deglycosylation | | | | 32 | | |
HP:0000274 | HP:0000274 | Small face | 0 | NHS CL E G H | 4810 | 7820 | OMIM:302350 | Nance-Horan syndrome | | | | 88 | | |
HP:0000274 | HP:0000274 | Small face | 0 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | | | | 22 | | |
HP:0000274 | HP:0000274 | Small face | 0 | NOTCH3 CL E G H | 4854 | 7883 | ORPHA:2789 | Lateral meningocele syndrome | | | | 144 | | |
HP:0000274 | HP:0000274 | Small face | 0 | NSD1 CL E G H | 64324 | 14234 | ORPHA:821 | Sotos syndrome | | | | 544 | | |
HP:0000274 | HP:0000274 | Small face | 0 | NSD1 CL E G H | 64324 | 14234 | OMIM:117550 | Sotos syndrome 1 | | | | 544 | | |
HP:0000274 | HP:0000274 | Small face | 0 | NSDHL CL E G H | 50814 | 13398 | ORPHA:251383 | CK syndrome | | | | 34 | | |
HP:0000274 | HP:0000274 | Small face | 0 | NSDHL CL E G H | 50814 | 13398 | OMIM:300831 | Ck syndrome | | | | 34 | | |
HP:0000274 | HP:0000274 | Small face | 0 | NSUN2 CL E G H | 54888 | 25994 | ORPHA:235 | Dubowitz syndrome | | | | 84 | | |
HP:0000274 | HP:0000274 | Small face | 0 | NSUN2 CL E G H | 54888 | 25994 | OMIM:611091 | Mental retardation, autosomal recessive 5 | | | | 84 | | |
HP:0000274 | HP:0000274 | Small face | 0 | NUP85 CL E G H | 79902 | 8734 | ORPHA:808 | Seckel syndrome | | | | | | |
HP:0000274 | HP:0000274 | Small face | 0 | PAX3 CL E G H | 5077 | 8617 | ORPHA:1529 | Craniofacial-deafness-hand syndrome | | | | 59 | | |
HP:0000274 | HP:0000274 | Small face | 0 | PAX9 CL E G H | 5083 | 8623 | ORPHA:99798 | Oligodontia | | | | 58 | | |
HP:0000274 | HP:0000274 | Small face | 0 | PBX1 CL E G H | 5087 | 8632 | OMIM:617641 | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | | | | 3 | | |
HP:0000274 | HP:0000274 | Small face | 0 | PCNT CL E G H | 5116 | 16068 | ORPHA:808 | Seckel syndrome | | | | 531 | | |
HP:0000274 | HP:0000274 | Small face | 0 | PLK4 CL E G H | 10733 | 11397 | ORPHA:808 | Seckel syndrome | | | | 11 | | |
HP:0000274 | HP:0000274 | Small face | 0 | POLR1B CL E G H | 84172 | 20454 | ORPHA:861 | Treacher-Collins syndrome | | | | | | |
HP:0000274 | HP:0000274 | Small face | 0 | POLR1C CL E G H | 9533 | 20194 | ORPHA:861 | Treacher-Collins syndrome | | | | 38 | | |
HP:0000274 | HP:0000274 | Small face | 0 | POLR1D CL E G H | 51082 | 20422 | ORPHA:861 | Treacher-Collins syndrome | | | | 31 | | |
HP:0000274 | HP:0000274 | Small face | 0 | PPP1R15B CL E G H | 84919 | 14951 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000274 | HP:0000274 | Small face | 0 | PQBP1 CL E G H | 10084 | 9330 | OMIM:309500 | Renpenning syndrome | | | | 28 | | |
HP:0000274 | HP:0000274 | Small face | 0 | PQBP1 CL E G H | 10084 | 9330 | ORPHA:93947 | X-linked intellectual disability, Golabi-Ito-Hall type | | | | 28 | | |
HP:0000274 | HP:0000274 | Small face | 0 | PQBP1 CL E G H | 10084 | 9330 | ORPHA:93945 | X-linked intellectual disability, Porteous type | | | | 28 | | |
HP:0000274 | HP:0000274 | Small face | 0 | PQBP1 CL E G H | 10084 | 9330 | ORPHA:93950 | X-linked intellectual disability, Sutherland-Haan type | | | | 28 | | |
HP:0000274 | HP:0000274 | Small face | 0 | RBBP8 CL E G H | 5932 | 9891 | ORPHA:808 | Seckel syndrome | | | | 68 | | |
HP:0000274 | HP:0000274 | Small face | 0 | RECQL4 CL E G H | 9401 | 9949 | ORPHA:1225 | Baller-Gerold syndrome | | | | 445 | | |
HP:0000274 | HP:0000274 | Small face | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000274 | HP:0000274 | Small face | 0 | RLIM CL E G H | 51132 | 13429 | OMIM:300978 | Tonne-Kalscheuer syndrome | | | | 7 | | |
HP:0000274 | HP:0000274 | Small face | 0 | RUNX2 CL E G H | 860 | 10472 | ORPHA:1452 | Cleidocranial dysplasia | | | | 90 | | |
HP:0000274 | HP:0000274 | Small face | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:98905 | Congenital multicore myopathy with external ophthalmoplegia | | | | 1200 | | |
HP:0000274 | HP:0000274 | Small face | 0 | RYR1 CL E G H | 6261 | 10483 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | | | | 1200 | | |
HP:0000274 | HP:0000274 | Small face | 0 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251028 | SATB2-associated syndrome due to a chromosomal rearrangement | | | | 34 | | |
HP:0000274 | HP:0000274 | Small face | 0 | SCN3A CL E G H | 6328 | 10590 | OMIM:617935 | Epilepsy, familial focal, with variable foci 4 | | | | 70 | | |
HP:0000274 | HP:0000274 | Small face | 0 | SELENON CL E G H | 57190 | 15999 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | | | | 144 | | |
HP:0000274 | HP:0000274 | Small face | 0 | SEMA3E CL E G H | 9723 | 10727 | ORPHA:138 | CHARGE syndrome | | | | 16 | | |
HP:0000274 | HP:0000274 | Small face | 0 | SETD2 CL E G H | 29072 | 18420 | ORPHA:821 | Sotos syndrome | | | | 60 | | |
HP:0000274 | HP:0000274 | Small face | 0 | SIN3A CL E G H | 25942 | 19353 | OMIM:613406 | Witteveen-Kolk syndrome | | | | 9 | | |
HP:0000274 | HP:0000274 | Small face | 0 | SIX1 CL E G H | 6495 | 10887 | OMIM:113650 | Branchiootorenal syndrome 1 | | | | 50 | | |
HP:0000274 | HP:0000274 | Small face | 0 | SLC16A2 CL E G H | 6567 | 10923 | ORPHA:59 | Allan-Herndon-Dudley syndrome | | | | 57 | | |
HP:0000274 | HP:0000274 | Small face | 0 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:619525 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W | | | | 110 | | |
HP:0000274 | HP:0000274 | Small face | 0 | SLC6A8 CL E G H | 6535 | 11055 | OMIM:300352 | Creatine deficiency syndrome, X-linked | | | | 122 | | |
HP:0000274 | HP:0000274 | Small face | 0 | SLC9A6 CL E G H | 10479 | 11079 | ORPHA:85278 | Christianson syndrome | | | | 93 | | |
HP:0000274 | HP:0000274 | Small face | 0 | SLC9A6 CL E G H | 10479 | 11079 | OMIM:300243 | Mental retardation, x-linked syndromic, Christianson type | | | | 93 | | |
HP:0000274 | HP:0000274 | Small face | 0 | SMS CL E G H | 6611 | 11123 | ORPHA:3063 | X-linked intellectual disability, Snyder type | | | | 19 | | |
HP:0000274 | HP:0000274 | Small face | 0 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | . | | | 109 | | |
HP:0000274 | HP:0000274 | Small face | 0 | STEEP1 CL E G H | 63932 | 26239 | OMIM:301013 | MENTAL RETARDATION, X-LINKED 107; MRX107 | | | | | | |
HP:0000274 | HP:0000274 | Small face | 0 | STRADA CL E G H | 92335 | 30172 | ORPHA:500533 | Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome | | | | 6 | | |
HP:0000274 | HP:0000274 | Small face | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000274 | HP:0000274 | Small face | 0 | SUMO1 CL E G H | 7341 | 12502 | ORPHA:99798 | Oligodontia | | | | 8 | | |
HP:0000274 | HP:0000274 | Small face | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000274 | HP:0000274 | Small face | 0 | TBR1 CL E G H | 10716 | 11590 | ORPHA:1617 | 2q24 microdeletion syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000274 | HP:0000274 | Small face | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:1727 | 22q11.2 duplication syndrome | | | | 32 | | |
HP:0000274 | HP:0000274 | Small face | 0 | TCOF1 CL E G H | 6949 | 11654 | ORPHA:861 | Treacher-Collins syndrome | | | | 140 | | |
HP:0000274 | HP:0000274 | Small face | 0 | TGFA CL E G H | 7039 | 11765 | ORPHA:99798 | Oligodontia | | | | | | |
HP:0000274 | HP:0000274 | Small face | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000274 | HP:0000274 | Small face | 0 | TNNI2 CL E G H | 7136 | 11946 | ORPHA:1147 | Sheldon-Hall syndrome | | | | 37 | | |
HP:0000274 | HP:0000274 | Small face | 0 | TNNT3 CL E G H | 7140 | 11950 | ORPHA:1147 | Sheldon-Hall syndrome | | | | 43 | | |
HP:0000274 | HP:0000274 | Small face | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 54 | | |
HP:0000274 | HP:0000274 | Small face | 0 | TPM2 CL E G H | 7169 | 12011 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | | | | 54 | | |
HP:0000274 | HP:0000274 | Small face | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:1147 | Sheldon-Hall syndrome | | | | 54 | | |
HP:0000274 | HP:0000274 | Small face | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171436 | Typical nemaline myopathy | | | | 54 | | |
HP:0000274 | HP:0000274 | Small face | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 108 | | |
HP:0000274 | HP:0000274 | Small face | 0 | TPM3 CL E G H | 7170 | 12012 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | | | | 108 | | |
HP:0000274 | HP:0000274 | Small face | 0 | TPM3 CL E G H | 7170 | 12012 | OMIM:609284 | Nemaline myopathy 1 | | | | 108 | | |
HP:0000274 | HP:0000274 | Small face | 0 | TRAIP CL E G H | 10293 | 30764 | ORPHA:808 | Seckel syndrome | | | | 2 | | |
HP:0000274 | HP:0000274 | Small face | 0 | TRAIP CL E G H | 10293 | 30764 | OMIM:616777 | Seckel syndrome 9 | | | | 2 | | |
HP:0000274 | HP:0000274 | Small face | 0 | TRIP11 CL E G H | 9321 | 12305 | OMIM:184260 | Osteochondrodysplasia | | | | 133 | | |
HP:0000274 | HP:0000274 | Small face | 0 | TRMT10A CL E G H | 93587 | 28403 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0000274 | HP:0000274 | Small face | 0 | TSPAN7 CL E G H | 7102 | 11854 | OMIM:300210 | MENTAL RETARDATION, X-LINKED 58; MRX58 | | | | 26 | | |
HP:0000274 | HP:0000274 | Small face | 0 | TUBB4A CL E G H | 10382 | 20774 | OMIM:128101 | Dystonia 4, torsion, autosomal dominant | | | | 66 | | |
HP:0000274 | HP:0000274 | Small face | 0 | UBB CL E G H | 7314 | 12463 | ORPHA:99772 | Cleft velum | | | | | | |
HP:0000274 | HP:0000274 | Small face | 0 | UBE3B CL E G H | 89910 | 13478 | OMIM:244450 | Kaufman oculocerebrofacial syndrome | | | | 13 | | |
HP:0000274 | HP:0000274 | Small face | 0 | UBE3B CL E G H | 89910 | 13478 | ORPHA:2707 | Oculocerebrofacial syndrome, Kaufman type | | | | 13 | | |
HP:0000274 | HP:0000274 | Small face | 0 | UPF3B CL E G H | 65109 | 20439 | ORPHA:776 | Lujan-Fryns syndrome | | | | 33 | | |
HP:0000274 | HP:0000274 | Small face | 0 | UPF3B CL E G H | 65109 | 20439 | OMIM:300676 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14 | | | | 33 | | |
HP:0000274 | HP:0000274 | Small face | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000274 | HP:0000274 | Small face | 0 | WNT10A CL E G H | 80326 | 13829 | ORPHA:99798 | Oligodontia | | | | 71 | | |
HP:0000274 | HP:0000274 | Small face | 0 | WNT10B CL E G H | 7480 | 12775 | ORPHA:99798 | Oligodontia | | | | 4 | | |
HP:0000274 | HP:0000274 | Small face | 0 | WRN CL E G H | 7486 | 12791 | ORPHA:902 | Werner syndrome | | | | 310 | | |
HP:0000274 | HP:0000274 | Small face | 0 | ZDHHC9 CL E G H | 51114 | 18475 | ORPHA:776 | Lujan-Fryns syndrome | | | | 10 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | ACTA1 CL E G H | 58 | 129 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 96 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | ACTA1 CL E G H | 58 | 129 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 96 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | ACTA1 CL E G H | 58 | 129 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 96 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | ANTXR2 CL E G H | 118429 | 21732 | OMIM:228600 | Hyaline fibromatosis syndrome | | | | 49 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | AP4E1 CL E G H | 23431 | 573 | OMIM:613744 | Spastic paraplegia 51, autosomal recessive | . | | | 48 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | APC2 CL E G H | 10297 | 24036 | ORPHA:821 | Sotos syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | ATP7A CL E G H | 538 | 869 | OMIM:304150 | Occipital horn syndrome | . | | | 192 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | ATR CL E G H | 545 | 882 | ORPHA:808 | Seckel syndrome | HP:0040281 - Very frequent | | | 168 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | ATRIP CL E G H | 84126 | 33499 | ORPHA:808 | Seckel syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000274 | HP:0011219 | Short face | 1 | AXIN2 CL E G H | 8313 | 904 | ORPHA:99798 | Oligodontia | HP:0040283 - Occasional | | | 435 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | BCOR CL E G H | 54880 | 20893 | OMIM:300166 | Microphthalmia, syndromic 2 | . | | | 101 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | BCOR CL E G H | 54880 | 20893 | ORPHA:2712 | Oculofaciocardiodental syndrome | HP:0040282 - Frequent | | | 101 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | BLM CL E G H | 641 | 1058 | ORPHA:125 | Bloom syndrome | HP:0040282 - Frequent | | | 314 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | BLM CL E G H | 641 | 1058 | OMIM:210900 | Bloom syndrome | . | | | 314 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | CENPE CL E G H | 1062 | 1856 | ORPHA:808 | Seckel syndrome | HP:0040281 - Very frequent | | | 20 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | CENPJ CL E G H | 55835 | 17272 | ORPHA:808 | Seckel syndrome | HP:0040281 - Very frequent | | | 161 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | CENPT CL E G H | 80152 | 25787 | OMIM:618702 | SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA | | | | | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | CEP152 CL E G H | 22995 | 29298 | ORPHA:808 | Seckel syndrome | HP:0040281 - Very frequent | | | 146 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | CFL2 CL E G H | 1073 | 1875 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 35 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | CHD7 CL E G H | 55636 | 20626 | ORPHA:138 | CHARGE syndrome | HP:0040282 - Frequent | | | 515 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | CHRNB1 CL E G H | 1140 | 1961 | OMIM:616313 | Myasthenic syndrome, congenital, 2A, slow-channel | . | | | 53 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | COL18A1 CL E G H | 80781 | 2195 | OMIM:267750 | Knobloch syndrome 1 | | | | 177 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | DSTYK CL E G H | 25778 | 29043 | OMIM:270750 | Spastic paraplegia 23 | . | | | 13 | | |
HP:0000274 | HP:0011219 | Short face | 1 | EDA CL E G H | 1896 | 3157 | ORPHA:99798 | Oligodontia | HP:0040283 - Occasional | | | 115 | | |
HP:0000274 | HP:0011219 | Short face | 1 | EDARADD CL E G H | 128178 | 14341 | ORPHA:99798 | Oligodontia | HP:0040283 - Occasional | | | 56 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 172 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | ERCC4 CL E G H | 2072 | 3436 | OMIM:610965 | XFE progeroid syndrome | . | | | 158 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | EYA1 CL E G H | 2138 | 3519 | OMIM:113650 | Branchiootorenal syndrome 1 | . | | | 135 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | EYA1 CL E G H | 2138 | 3519 | OMIM:166780 | Otofaciocervical syndrome | | | | 135 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | FBN1 CL E G H | 2200 | 3603 | OMIM:154700 | Marfan syndrome | . | | | 1361 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | FBXL4 CL E G H | 26235 | 13601 | OMIM:615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | . | | | 384 | | |
HP:0000274 | HP:0011219 | Short face | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:99798 | Oligodontia | HP:0040283 - Occasional | | | 172 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | FMR1 CL E G H | 2332 | 3775 | ORPHA:908 | Fragile X syndrome | HP:0040282 - Frequent | | | 30 | | |
HP:0000274 | HP:0011219 | Short face | 1 | GRHL3 CL E G H | 57822 | 25839 | ORPHA:99772 | Cleft velum | HP:0040283 - Occasional | | | 12 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | HYOU1 CL E G H | 10525 | 16931 | OMIM:233600 | Immunodeficiency 59 and hypoglycemia | . | | | | | |
HP:0000274 | HP:0011219 | Short face | 1 | IRF6 CL E G H | 3664 | 6121 | ORPHA:99798 | Oligodontia | HP:0040283 - Occasional | | | 99 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | KBTBD13 CL E G H | 390594 | 37227 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 80 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 13 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 13 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | LIG4 CL E G H | 3981 | 6601 | ORPHA:235 | Dubowitz syndrome | HP:0040282 - Frequent | | | 88 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:79474 | Atypical Werner syndrome | HP:0040281 - Very frequent | | | 645 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | LMOD3 CL E G H | 56203 | 6649 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 11 | | |
HP:0000274 | HP:0011219 | Short face | 1 | LRP6 CL E G H | 4040 | 6698 | ORPHA:99798 | Oligodontia | HP:0040283 - Occasional | | | 26 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | MAP2K2 CL E G H | 5605 | 6842 | OMIM:615280 | Cardiofaciocutaneous syndrome 4 | | | | 178 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | MED12 CL E G H | 9968 | 11957 | ORPHA:776 | Lujan-Fryns syndrome | HP:0040282 - Frequent | | | 228 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | MED12 CL E G H | 9968 | 11957 | OMIM:309520 | Lujan-Fryns syndrome | . | | | 228 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | MICU1 CL E G H | 10367 | 1530 | OMIM:615673 | Myopathy with extrapyramidal signs | | | | 14 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000274 | HP:0011219 | Short face | 1 | MSX1 CL E G H | 4487 | 7391 | ORPHA:99798 | Oligodontia | HP:0040283 - Occasional | | | 12 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | MTM1 CL E G H | 4534 | 7448 | OMIM:310400 | Myopathy, centronuclear, X-linked | . | | | 185 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | MYH3 CL E G H | 4621 | 7573 | ORPHA:1147 | Sheldon-Hall syndrome | HP:0040282 - Frequent | | | 166 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | MYH7 CL E G H | 4625 | 7577 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 1269 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | MYPN CL E G H | 84665 | 23246 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 217 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | NALCN CL E G H | 259232 | 19082 | ORPHA:1147 | Sheldon-Hall syndrome | HP:0040282 - Frequent | | | 48 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 13 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | NEB CL E G H | 4703 | 7720 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 745 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | NEB CL E G H | 4703 | 7720 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 745 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | NFIX CL E G H | 4784 | 7788 | ORPHA:420179 | Malan overgrowth syndrome | HP:0040282 - Frequent | | | 40 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | NFIX CL E G H | 4784 | 7788 | OMIM:614753 | Sotos syndrome 2 | . | | | 40 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | NGLY1 CL E G H | 55768 | 17646 | OMIM:615273 | Congenital disorder of deglycosylation | | | | 32 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | NHS CL E G H | 4810 | 7820 | OMIM:302350 | Nance-Horan syndrome | . | | | 88 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | . | | | 22 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | NOTCH3 CL E G H | 4854 | 7883 | ORPHA:2789 | Lateral meningocele syndrome | HP:0040281 - Very frequent | | | 144 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | NSD1 CL E G H | 64324 | 14234 | ORPHA:821 | Sotos syndrome | HP:0040282 - Frequent | | | 544 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | NSD1 CL E G H | 64324 | 14234 | OMIM:117550 | Sotos syndrome 1 | | | | 544 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | NSDHL CL E G H | 50814 | 13398 | OMIM:300831 | Ck syndrome | . | | | 34 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | NSDHL CL E G H | 50814 | 13398 | ORPHA:251383 | CK syndrome | HP:0040281 - Very frequent | | | 34 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | NSUN2 CL E G H | 54888 | 25994 | ORPHA:235 | Dubowitz syndrome | HP:0040282 - Frequent | | | 84 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | NSUN2 CL E G H | 54888 | 25994 | OMIM:611091 | Mental retardation, autosomal recessive 5 | . | | | 84 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | NUP85 CL E G H | 79902 | 8734 | ORPHA:808 | Seckel syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | PAX3 CL E G H | 5077 | 8617 | ORPHA:1529 | Craniofacial-deafness-hand syndrome | HP:0040281 - Very frequent | | | 59 | | |
HP:0000274 | HP:0011219 | Short face | 1 | PAX9 CL E G H | 5083 | 8623 | ORPHA:99798 | Oligodontia | HP:0040283 - Occasional | | | 58 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | PBX1 CL E G H | 5087 | 8632 | OMIM:617641 | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | . | | | 3 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | PCNT CL E G H | 5116 | 16068 | ORPHA:808 | Seckel syndrome | HP:0040281 - Very frequent | | | 531 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | PLK4 CL E G H | 10733 | 11397 | ORPHA:808 | Seckel syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0000274 | HP:0011219 | Short face | 1 | POLR1B CL E G H | 84172 | 20454 | ORPHA:861 | Treacher-Collins syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000274 | HP:0011219 | Short face | 1 | POLR1C CL E G H | 9533 | 20194 | ORPHA:861 | Treacher-Collins syndrome | HP:0040281 - Very frequent | | | 38 | | |
HP:0000274 | HP:0011219 | Short face | 1 | POLR1D CL E G H | 51082 | 20422 | ORPHA:861 | Treacher-Collins syndrome | HP:0040281 - Very frequent | | | 31 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | PPP1R15B CL E G H | 84919 | 14951 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | PQBP1 CL E G H | 10084 | 9330 | OMIM:309500 | Renpenning syndrome | | HP:0003621 - Juvenile onset | | 28 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | PQBP1 CL E G H | 10084 | 9330 | ORPHA:93947 | X-linked intellectual disability, Golabi-Ito-Hall type | HP:0040281 - Very frequent | | | 28 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | PQBP1 CL E G H | 10084 | 9330 | ORPHA:93945 | X-linked intellectual disability, Porteous type | HP:0040282 - Frequent | | | 28 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | PQBP1 CL E G H | 10084 | 9330 | ORPHA:93950 | X-linked intellectual disability, Sutherland-Haan type | HP:0040283 - Occasional | | | 28 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | RBBP8 CL E G H | 5932 | 9891 | ORPHA:808 | Seckel syndrome | HP:0040281 - Very frequent | | | 68 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | RECQL4 CL E G H | 9401 | 9949 | ORPHA:1225 | Baller-Gerold syndrome | HP:0040283 - Occasional | | | 445 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | RLIM CL E G H | 51132 | 13429 | OMIM:300978 | Tonne-Kalscheuer syndrome | . | | | 7 | | |
HP:0000274 | HP:0011219 | Short face | 1 | RUNX2 CL E G H | 860 | 10472 | ORPHA:1452 | Cleidocranial dysplasia | HP:0040282 - Frequent | | | 90 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | RYR1 CL E G H | 6261 | 10483 | ORPHA:98905 | Congenital multicore myopathy with external ophthalmoplegia | HP:0040283 - Occasional | | | 1200 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | RYR1 CL E G H | 6261 | 10483 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 1200 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251028 | SATB2-associated syndrome due to a chromosomal rearrangement | HP:0040283 - Occasional | | | 34 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | SELENON CL E G H | 57190 | 15999 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 144 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | SEMA3E CL E G H | 9723 | 10727 | ORPHA:138 | CHARGE syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | SETD2 CL E G H | 29072 | 18420 | ORPHA:821 | Sotos syndrome | HP:0040282 - Frequent | | | 60 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | SIN3A CL E G H | 25942 | 19353 | OMIM:613406 | Witteveen-Kolk syndrome | | | | 9 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | SIX1 CL E G H | 6495 | 10887 | OMIM:113650 | Branchiootorenal syndrome 1 | . | | | 50 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | SLC16A2 CL E G H | 6567 | 10923 | ORPHA:59 | Allan-Herndon-Dudley syndrome | HP:0040282 - Frequent | | | 57 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:619525 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W | | | | 110 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | SLC6A8 CL E G H | 6535 | 11055 | OMIM:300352 | Creatine deficiency syndrome, X-linked | . | | | 122 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | SLC9A6 CL E G H | 10479 | 11079 | ORPHA:85278 | Christianson syndrome | HP:0040281 - Very frequent | | | 93 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | SLC9A6 CL E G H | 10479 | 11079 | OMIM:300243 | Mental retardation, x-linked syndromic, Christianson type | . | | | 93 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | SMS CL E G H | 6611 | 11123 | ORPHA:3063 | X-linked intellectual disability, Snyder type | HP:0040282 - Frequent | | | 19 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | STEEP1 CL E G H | 63932 | 26239 | OMIM:301013 | MENTAL RETARDATION, X-LINKED 107; MRX107 | | | | | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | STRADA CL E G H | 92335 | 30172 | ORPHA:500533 | Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000274 | HP:0011219 | Short face | 1 | SUMO1 CL E G H | 7341 | 12502 | ORPHA:99798 | Oligodontia | HP:0040283 - Occasional | | | 8 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | TBX1 CL E G H | 6899 | 11592 | ORPHA:1727 | 22q11.2 duplication syndrome | HP:0040282 - Frequent | | | 32 | | |
HP:0000274 | HP:0011219 | Short face | 1 | TCOF1 CL E G H | 6949 | 11654 | ORPHA:861 | Treacher-Collins syndrome | HP:0040281 - Very frequent | | | 140 | | |
HP:0000274 | HP:0011219 | Short face | 1 | TGFA CL E G H | 7039 | 11765 | ORPHA:99798 | Oligodontia | HP:0040283 - Occasional | | | | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | TNNI2 CL E G H | 7136 | 11946 | ORPHA:1147 | Sheldon-Hall syndrome | HP:0040282 - Frequent | | | 37 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | TNNT3 CL E G H | 7140 | 11950 | ORPHA:1147 | Sheldon-Hall syndrome | HP:0040282 - Frequent | | | 43 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 54 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | TPM2 CL E G H | 7169 | 12011 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 54 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | TPM2 CL E G H | 7169 | 12011 | ORPHA:1147 | Sheldon-Hall syndrome | HP:0040282 - Frequent | | | 54 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 54 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 108 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | TPM3 CL E G H | 7170 | 12012 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 108 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | TPM3 CL E G H | 7170 | 12012 | OMIM:609284 | Nemaline myopathy 1 | . | | | 108 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | TRAIP CL E G H | 10293 | 30764 | ORPHA:808 | Seckel syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | TRAIP CL E G H | 10293 | 30764 | OMIM:616777 | Seckel syndrome 9 | | | | 2 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | TRIP11 CL E G H | 9321 | 12305 | OMIM:184260 | Osteochondrodysplasia | . | | | 133 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | TRMT10A CL E G H | 93587 | 28403 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | TSPAN7 CL E G H | 7102 | 11854 | OMIM:300210 | MENTAL RETARDATION, X-LINKED 58; MRX58 | | | | 26 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | TUBB4A CL E G H | 10382 | 20774 | OMIM:128101 | Dystonia 4, torsion, autosomal dominant | . | | | 66 | | |
HP:0000274 | HP:0011219 | Short face | 1 | UBB CL E G H | 7314 | 12463 | ORPHA:99772 | Cleft velum | HP:0040283 - Occasional | | | | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | UBE3B CL E G H | 89910 | 13478 | OMIM:244450 | Kaufman oculocerebrofacial syndrome | | | | 13 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | UBE3B CL E G H | 89910 | 13478 | ORPHA:2707 | Oculocerebrofacial syndrome, Kaufman type | HP:0040282 - Frequent | | | 13 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | UPF3B CL E G H | 65109 | 20439 | ORPHA:776 | Lujan-Fryns syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | UPF3B CL E G H | 65109 | 20439 | OMIM:300676 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14 | | | | 33 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000274 | HP:0011219 | Short face | 1 | WNT10A CL E G H | 80326 | 13829 | ORPHA:99798 | Oligodontia | HP:0040283 - Occasional | | | 71 | | |
HP:0000274 | HP:0011219 | Short face | 1 | WNT10B CL E G H | 7480 | 12775 | ORPHA:99798 | Oligodontia | HP:0040283 - Occasional | | | 4 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | WRN CL E G H | 7486 | 12791 | ORPHA:902 | Werner syndrome | HP:0040282 - Frequent | | | 310 | | |
HP:0000274 | HP:0000275 | Narrow face | 1 | ZDHHC9 CL E G H | 51114 | 18475 | ORPHA:776 | Lujan-Fryns syndrome | HP:0040282 - Frequent | | | 10 | | |